- Author:
Corina Angeline N. Manalang-Gallardo
;
Janice E. Almeda
- Publication Type:Case Reports
- Keywords: Genodermatoses
- MeSH: Human; Female; Middle Aged: 45-64 Yrs Old; Neurofibroma; Neurofibromatoses
- From: Journal of the Philippine Dermatological Society 2024;33(Suppl 1):6-6
- CountryPhilippines
- Language:English
-
Abstract:
Neurofibromatosis is a systemic disorder that presents with cafe-au-lait spots, intertriginous freckling, neurofibromas, optic pathway tumors, lisch nodules, and distinct osseous lesions. We present a case of a 57-year-old Filipino female with a lifelong history of multiple bumps on the skin. Clinical, dermoscopic, and histopathologic findings confirmed our diagnosis.
A multidisciplinary approach is the cornerstone of management of Neurofibromatosis Type 1. Surgical excision can be performed on symptomatic lesions, but the recurrence can occur. In April 2020, Koselugo (selumetinib) was approved by the U.S. Food and Drug Administration (FDA) for the treatment of NF1-associated plexiform neurofibromas that are disfiguring or inoperable in children 2 years and older. The outlook for patients with NF-1 is guarded and depends on the severity of the disease, the presence of malignancy, and the extent of the deformity.